Ashkenazi Jewish Screening Panel
Includes: Bloom syndrome, Canavan disease, Familial Dysautonomia, Fanconi Anemia, Mucolipidosis IV, Niemann-Pick disease,Tay-Sachs disease
For details about specimen requirements, please refer to Specimen Type & Requirements (PDF).
Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
DNA-minimum 10 ug in 100 uL low TE (pH8.0)
For details about specimen requirements, please refer to: Specimen Type and Requirements
Special Instructions for Genome Diagnostics Samples
If sample shipment >48 hours, ship on ice.
The Ashkenazi Jewish screening panel currently consists of testing for seven diseases common in the Ashkenazi Jewish population: Bloom syndrome (BLM), Canavan disease (CVN), Familial dysautonomia (FD), Fanconi anemia group C (FA-C), mucolipidosis type IV (MLP4), Niemann Pick disease type A & B (NP) and Tay-Sachs (TSD) disease. Although these conditions have been reported in individuals of various ethnic backgrounds, these diseases occur most frequently in people of Ashkenazi Jewish ancestry. These conditions present when a child receives two copies of an altered gene, one from each parent. Any person with one copy of an altered gene is a carrier of that disease. Carriers are not affected themselves and will not develop the disease. However, if their partner is also a carrier for the same disease, there is a one in four chance (25%) that their baby will be born with the disease condition. There is a three in four chance (75%) that their baby will not have the disease condition.
See related information sheet Ashkenazi Jewish Screening Panel
- Bloom syndrome
- Canavan disease
- Familial Dysautonomia
- Fanconi Anemia
- Mucolipidosis IV
- Niemann-Pick disease
- Tay-Sachs disease
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